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rs4986791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) complex; see details
(T;T) 2.5 complex; see details
ReferenceGRCh38 38.1/141
Chromosome9
Position117713324
GeneTLR4
is asnp
is mentioned by
dbSNPrs4986791
ebirs4986791
HLIrs4986791
Exacrs4986791
Varsomers4986791
Maprs4986791
PheGenIrs4986791
hapmaprs4986791
1000 genomesrs4986791
hgdprs4986791
ensemblrs4986791
gopubmedrs4986791
geneviewrs4986791
scholarrs4986791
googlers4986791
pharmgkbrs4986791
gwascentralrs4986791
openSNPrs4986791
23andMers4986791
23andMe allrs4986791
SNP Nexus

SNPshotrs4986791
SNPdbers4986791
MSV3drs4986791
GWAS Ctlgrs4986791
GMAF0.02984
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28
rs4986791, a SNP also known as Thr399Ile (and also 1196C/T) in the TLR4 gene, is often studied along with a cosegregating SNP known as Asp299Gly, rs4986790. (TLR4 encodes a receptor involved in the innate immune response.) Together, these SNPs have been reported to be associated with a wide variety of both infectious and non-infectious diseases, although there are conflicting or even contradictory results also reported in some cases. The risk allele for rs4986791 is (T).

Reported associations include [PMID 15766650]:

  • Heart disease
    • Men with the risk alleles for both SNPs are at increased risk for myocardial infarction in this study of over 2000 individuals. [PMID 15576653]
    • rs4986790(G) carriers are not at increased risk for myocardial infartions, at least in this study of ~200 individuals. [PMID 15547160]
    • rs4986790(G) carriers are less likely to have heart attacks, in this study of ~400 individuals. [PMID 14563652]
    • Individuals with the risk alleles for both SNPs have a lower incidence of carotid stenosis [PMID 12124407]
  • Allograft complications
    • A study of 300+ recipients of hematopoietic-cell transplants concluded that the adjusted hazard ratio for a recipient of developing a life-threatening invasive aspergillosis infection was 6.16x higher (CI: 1.97-19.26, p=0.002) if the donor carried these TLR4 risk alleles. This risk was statistically significant for unrelated recipients of transplants (odds ratio, 5.0, CI: 1.04-24.01, p=0.04) but did not quite meet the p=0.05 significance criteria for related recipients (odds ratio, 2.29, CI: 0.93-5.68, p=0.07). [PMID 18946062OA-icon.png]
OMIM603030
DescENDOTOXIN HYPORESPONSIVENESS
Variant0002
Relatedalso
Neighborrs4986790
Distance300
[PMID 21283657OA-icon.png] Gallbladder Cancer Predisposition: A Multigenic Approach to DNA-Repair, Apoptotic and Inflammatory Pathway Genes


[PMID 21081146] Impact of Toll-like receptor 4 polymorphisms on risk of cancer


[PMID 21837802] Confirmation of an association between single nucleotide polymorphisms in the VDR gene with respiratory syncytial virus related disease in South African Children


[PMID 22286521] Polymorphism of the TLR4 Gene Reduces the Risk of Hepatitis C Virus-Induced Hepatocellular Carcinoma


[PMID 22645142OA-icon.png] Variants of Toll-like receptor 4 predict cardiac recovery in patients with dilated cardiomyopathy


ClinVar
Risk rs4986791(T;T)
Alt rs4986791(T;T)
Reference rs4986791(C;C)
Significance Non-pathogenic
Disease TLR4 POLYMORPHISM not provided
Variation info
Gene TLR4
CLNDBN TLR4 POLYMORPHISM not provided
Reversed 0
HGVS NC_000009.11:g.120475602C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007043.3, RCV000086999.1,



[PMID 16820586OA-icon.png] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.


[PMID 16954131] Toll-like receptor 4 gene polymorphisms and myocardial infarction: no association in a Caucasian population.


[PMID 17667860] Toll-like receptor 2 polymorphism is associated with preterm birth.


[PMID 17699831OA-icon.png] Toll-like receptor 4 polymorphism associated with the response to whole-cell pertussis vaccination in children from the KOALA study.


[PMID 18172114OA-icon.png] Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.


[PMID 18298826OA-icon.png] Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol.


[PMID 18307517OA-icon.png] Common studied polymorphisms do not affect plasma cytokine levels upon endotoxin exposure in humans.


[PMID 18325643OA-icon.png] Associations between SNPs in toll-like receptors and related intracellular signaling molecules and immune responses to measles vaccine: preliminary results.


[PMID 18382655OA-icon.png] Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.


[PMID 18396467OA-icon.png] Genetic variation and haplotype structures of innate immunity genes in eastern India.


[PMID 18422738OA-icon.png] Study of Toll-like receptor gene loci in sarcoidosis.


[PMID 18549840OA-icon.png] Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke.


[PMID 18753640OA-icon.png] Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.


[PMID 18975326] Toll-like receptor 2 variants are associated with acute reactive arthritis.


[PMID 18987746OA-icon.png] Association of interacting genes in the toll-like receptor signaling pathway and the antibody response to pertussis vaccination.


[PMID 19085953OA-icon.png] Functional linkage of cirrhosis-predictive single nucleotide polymorphisms of Toll-like receptor 4 to hepatic stellate cell responses.


[PMID 19134200OA-icon.png] No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis.


[PMID 19277200OA-icon.png] Toll-like receptor 4 (TLR4) and typhoid fever in Vietnam.


[PMID 19543401OA-icon.png] Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.


[PMID 19567509OA-icon.png] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.


[PMID 19586676OA-icon.png] Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection.


[PMID 20011079OA-icon.png] Lack of association between toll-like receptor 4 gene polymorphisms and sarcoidosis-related uveitis in Japan.


[PMID 20016852OA-icon.png] Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women.


[PMID 20026892] [Association of Toll-like receptor gene with Crohn's disease in Koreans].


[PMID 20463618OA-icon.png] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.


[PMID 20492496] Significant association between toll-like receptor gene polymorphisms and gallbladder cancer.


[PMID 20525286OA-icon.png] Influence of genetic variations in TLR4 and TIRAP/Mal on the course of sepsis and pneumonia and cytokine release: an observational study in three cohorts.


[PMID 20671584] Toll-like receptor 4 gene polymorphisms show no association with the risk of clinical or angiographic restenosis after percutaneous coronary intervention.


[PMID 21385363OA-icon.png] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.


[PMID 22300618] Toll-like 4 receptor variant, Asp299Gly, and reduced risk of hemorrhagic cystitis after hematopoietic stem cell transplantation.


[PMID 22348075OA-icon.png] Influence of common non-synonymous Toll-like receptor 4 polymorphisms on bronchopulmonary dysplasia and prematurity in human infants.


GET Evidence
TLR4-T399I
aa_change Thr399Ile
aa_change_short T399I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0474066
summary



[PMID 23084080] The TLR4 gene polymorphisms and susceptibility to cancer: A systematic review and meta-analysis


[PMID 22494793] Innate immunity gene single nucleotide polymorphisms and otitis media


[PMID 23151015OA-icon.png] Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children


[PMID 23086128] Profiles of gene polymorphisms in cytokines and Toll-like receptors with higher risk for gastric cancer


[PMID 23867959OA-icon.png] Toll-like receptor genetic variants are associated with Gram-negative infections in VLBW infants


[PMID 24028589] TLR2, TLR3, TLR4 and CD14 gene polymorphisms associated with oral lichen planus risk


[PMID 24447403] TLR4 polymorphism is not associated with biopsy proven giant cell arteritis


[PMID 23071570OA-icon.png] Gene-gene interaction and functional impact of polymorphisms on innate immune genes in controlling Plasmodium falciparum blood infection level.


[PMID 23161283OA-icon.png] SNPs in toll-like receptor (TLR) genes as new genetic alterations associated with congenital toxoplasmosis?


[PMID 23289617] Genetic variation of TLR2 and TLR4 among the Saudi Arabian population: insight into the evolutionary dynamics of the Arabian Peninsula.


[PMID 23417289] Coding variants of TLR2 and TLR4 genes do not substantially contribute to prosthetic joint infection.


[PMID 23459936OA-icon.png] Exploring the genetic basis of chronic periodontitis: a genome-wide association study.


[PMID 25177689OA-icon.png] The Association of Toll-Like Receptor 4 Polymorphism with Hepatitis C Virus Infection in Saudi Arabian Patients


[PMID 25213166] An association between single nucleotide polymorphisms within TLR and TREM-1 genes and infective endocarditis


[PMID 24349054OA-icon.png] No correlation between PNPLA3 rs738409 genotype and fatty liver and hepatic cirrhosis in Japanese patients with HCV


[PMID 25360682OA-icon.png] Polymorphisms of an innate immune gene, toll-like receptor 4, and aggressive prostate cancer risk: a systematic review and meta-analysis


[PMID 26919710] Variations in genes involved in regulation of the nuclear factor - κB pathway and the risk of acute myeloid leukaemia.


[PMID 25542762] Poststroke fatigue: hints to a biological mechanism.


[PMID 27069792] Association of NOD1, CXCL16, STAT6 and TLR4 gene polymorphisms with Malaysian patients with Crohn's disease


[PMID 27155792] TLR2 and TLR4 polymorphisms in Southern Chinese Psoriasis Vulgaris patients.


[PMID 27526043] Lack of Association Between Polymorphism rs4986791 in TLR4 and Primary Open-Angle Glaucoma in a Saudi Cohort.